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Year | Number of Results |
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1997 | 1 |
2009 | 1 |
2021 | 3 |
2024 | 0 |
PubMed (OMIM) for id: 10526
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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18.
Am J Hum Genet. 2021.
PMID: 34010605
Free PMC article.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M.
Ziegler A, et al.
Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. doi: 10.1016/j.ajhg.2021.04.020. Epub 2021 May 18.
Am J Hum Genet. 2021.
PMID: 34010604
Free PMC article.
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Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P.
Bertoli-Avella AM, et al.
Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19.
Genet Med. 2021.
PMID: 33875846
Free PMC article.
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Importin 8 is a gene silencing factor that targets argonaute proteins to distinct mRNAs.
Weinmann L, Höck J, Ivacevic T, Ohrt T, Mütze J, Schwille P, Kremmer E, Benes V, Urlaub H, Meister G.
Weinmann L, et al.
Cell. 2009 Feb 6;136(3):496-507. doi: 10.1016/j.cell.2008.12.023. Epub 2009 Jan 22.
Cell. 2009.
PMID: 19167051
Free article.
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A novel class of RanGTP binding proteins.
Görlich D, Dabrowski M, Bischoff FR, Kutay U, Bork P, Hartmann E, Prehn S, Izaurralde E.
Görlich D, et al.
J Cell Biol. 1997 Jul 14;138(1):65-80. doi: 10.1083/jcb.138.1.65.
J Cell Biol. 1997.
PMID: 9214382
Free PMC article.
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